Alcohol consumption and liver phenotype of individuals with alpha-1 antitrypsin deficiency

被引：0

作者：

Fromme, Malin ^{[1
]}

Schneider, Carolin V. ^{[1
]}

Guldiken, Nurdan ^{[1
]}

Amzou, Samira ^{[1
]}

Luo, Yizhao ^{[1
]}

Pons, Monica ^{[2
,3
]}

Genesca, Joan ^{[2
,3
]}

Miravitlles, Marc ^{[4
]}

Thorhauge, Katrine H. ^{[5
,6
]}

Mandorfer, Mattias ^{[7
]}

Waern, Johan ^{[8
]}

Schneider, Kai Markus ^{[1
]}

Sperl, Jan ^{[9
]}

Frankova, Sona ^{[9
]}

Bartel, Marc ^{[10
]}

Zimmer, Holger ^{[11
]}

Zorn, Markus ^{[11
]}

Krag, Aleksander ^{[5
,6
]}

Turner, Alice ^{[12
]}

Trautwein, Christian ^{[1
]}

Strnad, Pavel ^{[1
]}

机构：

[1] Univ Hosp RWTH Aachen, Med Clin 3, Hlth Care Provider European Reference Network Rare, Gastroenterol Metab Dis & Intens Care, Aachen, Germany

[2] Univ Autonoma Barcelona, Hosp Univ Vall dHebron, Vall dHebron Res Inst VHIR, Liver Unit, Barcelona, Spain

[3] Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Hepat & Digest, Madrid, Spain

[4] Vall dHebron Univ Hosp, Vall dHebron Res Inst VHIR, Hlth Care Provider European Reference Network Rare, Dept Pneumol, Vall dHebron Barcelona Hosp Campus, Barcelona, Spain

[5] Odense Univ Hosp, Dept Gastroenterol & Hepatol, Odense, Denmark

[6] Univ Southern Denmark, Fac Hlth Sci, Dept Clin Res, Odense, Denmark

[7] Med Univ Vienna, Dept Internal Med 3, Div Gastroenterol & Hepatol, Hlth Care Provider European Reference Network Rare, Vienna, Austria

[8] Sahlgrens Univ Hosp, Dept Med, Gastroenterol & Hepatol Unit, Hlth Care Provider European Reference Network Rare, Gothenburg, Sweden

[9] Inst Clin & Expt Med, Hlth Care Provider European Reference Network Rare, Dept Hepatogastroenterol, Prague, Czech Republic

[10] Heidelberg Univ Hosp, Inst Forens & Traff Med, Heidelberg, Germany

[11] Heidelberg Univ Hosp, Dept Internal Med & Clin Chem 1, Heidelberg, Germany

[12] Univ Birmingham, Inst Appl Hlth Res, Birmingham, England

来源：

LIVER INTERNATIONAL | 2024年 / 44卷 / 10期

关键词：

alcohol; FibroScan; liver cirrhosis; liver fibrosis; Pi*Z; SERPINA1; DISEASE; VARIANT; ADULTS;

D O I：

10.1111/liv.16044

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

Background and Aims: Alpha-1 antitrypsin deficiency is an inherited disorder caused by alpha-1 antitrypsin (AAT) mutations. We analysed the association between alcohol intake and liver-related parameters in individuals with the heterozygous/homozygous Pi*Z AAT variant (Pi*MZ/Pi*ZZ genotype) found in the United Kingdom Biobank and the European Alpha1 liver consortium. Methods: Reported alcohol consumption was evaluated in two cohorts: (i) the community-based United Kingdom Biobank (17 145 Pi*MZ, 141 Pi*ZZ subjects, and 425 002 non-carriers [Pi*MM]); and (ii) the European Alpha1 liver consortium (561 Pi*ZZ individuals). Cohort (ii) included measurements of carbohydrate-deficient transferrin (CDT). Results: In both cohorts, no/low alcohol intake was reported by >80% of individuals, while harmful consumption was rare (similar to 1%). Among Pi*MM and Pi*MZ individuals from cohort (i), moderate alcohol consumption resulted in a <30% increased rate of elevated transaminases and similar to 50% increase in elevated gamma-glutamyl transferase values, while harmful alcohol intake led to an at least twofold increase in the abnormal levels. In Pi*ZZ individuals from both cohorts, moderate alcohol consumption had no marked impact on serum transaminase levels. Among Pi*ZZ subjects from cohort (ii) who reported no/low alcohol consumption, those with increased CDT levels more often had signs of advanced liver disease. Conclusions: Pi*MZ/Pi*ZZ genotype does not seem to markedly aggravate the hepatic toxicity of moderate alcohol consumption. CDT values might be helpful to detect alcohol consumption in those with advanced fibrosis. More data are needed to evaluate the impact of harmful alcohol consumption.

引用

页码：2660 / 2671

页数：12

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